Variant (rsID / SNP)

rs371715068

rs371715068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,597,460. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FBN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:127597460
Cytoband: 5q23.3
HGVS: NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln)
Allele change: Missense_K2778Q

Associated conditions / phenotypes

Cardiovascular phenotype|Congenital contractural arachnodactyly|Connective tissue disorder

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.